Product Details

SNP ID

rs76604632

Assay Type

Functionally tested

NCBI dbSNP Submissions

16

Location

Chr.1:109496042 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCCCCGGGCAGCCAGGGTCTCAA[A/G]GGTGGCTCGCCTCAAGCTCTACCAT

Phenotype

MIM: 615689

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AMIGO1 PubMed Links

Gene Details

Gene

AMIGO1

Gene Name

adhesion molecule with Ig like domain 1

There are no transcripts associated with this gene.

Gene

ATXN7L2

Gene Name

ataxin 7 like 2

There are no transcripts associated with this gene.

Gene

CYB561D1

Gene Name

cytochrome b561 family member D1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001134400.1	1727	Missense Mutation	AAG,AGG	K180R	NP_001127872.1
NM_001134402.1	1727	Missense Mutation	AAG,AGG	K101R	NP_001127874.1
NM_001134403.1	1727	UTR 3			NP_001127875.1
NM_001134404.1	1727	UTR 3			NP_001127876.1
NM_182580.2	1727	Missense Mutation	AAG,AGG	K158R	NP_872386.1
XM_005270775.2	1727	Missense Mutation	AAG,AGG	K120R	XP_005270832.1
XM_005270776.3	1727	Missense Mutation	AAG,AGG	K100R	XP_005270833.1
XM_005270777.2	1727	Missense Mutation	AAG,AGG	K92R	XP_005270834.1
XM_011541286.2	1727	Missense Mutation	AAG,AGG	K120R	XP_011539588.1
XM_011541287.2	1727	Missense Mutation	AAG,AGG	K219R	XP_011539589.2
XM_017001078.1	1727	Missense Mutation	AAG,AGG	K100R	XP_016856567.1
XM_017001079.1	1727	Missense Mutation	AAG,AGG	K100R	XP_016856568.1

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